G17V (p.Gly17Val) variant of HBD (Hemoglobin subunit delta)
G17V (p.Gly17Val) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- gnomAD rs1172700897
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.66
- MetaSVM -0.18
- CADD 13.90
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available